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733070005: Duplication of eyebrow and syndactyly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498672017 Duplication of eyebrow and syndactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498673010 Eyebrow duplication syndactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498674016 Duplication of eyebrow and syndactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499958017 Syndrome with characteristics of partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Duplication of eyebrow and syndactyly syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Duplication of eyebrow and syndactyly syndrome Is a Syndactyly of toes true Inferred relationship Some
Duplication of eyebrow and syndactyly syndrome Is a Syndactyly of fingers (disorder) true Inferred relationship Some
Duplication of eyebrow and syndactyly syndrome Is a Diprosopus true Inferred relationship Some
Duplication of eyebrow and syndactyly syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Duplication of eyebrow and syndactyly syndrome Is a Congenital malformation of the eyebrow true Inferred relationship Some
Duplication of eyebrow and syndactyly syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Duplication of eyebrow and syndactyly syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Some 3
Duplication of eyebrow and syndactyly syndrome Occurrence Congenital true Inferred relationship Some 3
Duplication of eyebrow and syndactyly syndrome Finding site Toe structure false Inferred relationship Some 3
Duplication of eyebrow and syndactyly syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Some 4
Duplication of eyebrow and syndactyly syndrome Occurrence Congenital false Inferred relationship Some 4
Duplication of eyebrow and syndactyly syndrome Finding site Finger structure false Inferred relationship Some 4
Duplication of eyebrow and syndactyly syndrome Associated morphology Double structure false Inferred relationship Some 5
Duplication of eyebrow and syndactyly syndrome Occurrence Congenital false Inferred relationship Some 5
Duplication of eyebrow and syndactyly syndrome Finding site Eyebrow structure (body structure) false Inferred relationship Some 5
Duplication of eyebrow and syndactyly syndrome Associated morphology Double structure true Inferred relationship Some 3
Duplication of eyebrow and syndactyly syndrome Finding site Eyebrow structure (body structure) true Inferred relationship Some 3
Duplication of eyebrow and syndactyly syndrome Occurrence Congenital true Inferred relationship Some 1
Duplication of eyebrow and syndactyly syndrome Occurrence Congenital true Inferred relationship Some 2
Duplication of eyebrow and syndactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Duplication of eyebrow and syndactyly syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Some 1
Duplication of eyebrow and syndactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Duplication of eyebrow and syndactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Duplication of eyebrow and syndactyly syndrome Finding site Finger structure true Inferred relationship Some 2
Duplication of eyebrow and syndactyly syndrome Finding site Toe structure true Inferred relationship Some 1
Duplication of eyebrow and syndactyly syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Some 2
Duplication of eyebrow and syndactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Duplication of eyebrow and syndactyly syndrome Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 1
Duplication of eyebrow and syndactyly syndrome Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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